TK2 mutation presenting as indolent myopathy
نویسندگان
چکیده
منابع مشابه
Sarcoidosis presenting as proximal myopathy.
Sarcoidosis is a multi-system inflammatory disorder of unknown cause. Most patients with this disease present with respiratory symptoms as lungs are frequently affected organs. Symptomatic muscle involvement is rare1 and presentation of this disease as myopathy is even rarer.2 We describe a case of a lady who presented with severe disabling proximal myopathy as the only feature of underlying sa...
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We report three adolescent patients with osteomalacia who presented initially with clinical features consistent with proximal myopathy. All patients had low serum level of 25 hydroxy vitamin D. Furthermore, radiological investigations confirmed osteomalacia. Myopathy responded well to appropriate treatment of osteomalacia. Possible pathophysiologic explanation of myopathy in patients with osteo...
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A 34-year-old female patient, who had proximal muscle weakness for 8 months, presented with erythema nodosum lesions on the pretibial region in addition to pain, swelling, and movement restriction in both ankles for the last one month. Thoracic CT demonstrated hilar and mediastinal lymphadenopathy. She underwent mediastinoscopic lymph node biopsy; biopsy result was consistent with noncaseating ...
متن کاملMitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
BACKGROUND The mitochondrial DNA depletion syndrome is an autosomal recessive disorder of infancy or childhood characterized by decreased mitochondrial DNA copy number in affected tissues. Mutations in 2 genes involved in deoxyribonucleotide metabolism, the deoxyguanosine kinase gene (DGK) and the thymidine kinase 2 gene (TK2), have been related to this syndrome. OBJECTIVE To describe 3 sibli...
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Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory fun...
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ژورنال
عنوان ژورنال: Neurology
سال: 2013
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e31827f0ff7